HsaEX0020084 @ hg38
Exon Skipping
Gene
ENSG00000114841 | DNAH1
Description
dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940]
Coordinates
chr3:52375240-52375993:+
Coord C1 exon
chr3:52375240-52375413
Coord A exon
chr3:52375570-52375618
Coord C2 exon
chr3:52375955-52375993
Length
49 bp
Sequences
Splice sites
3' ss Seq
AGCTGTGTGATCTTTGGCAGCTC
3' ss Score
5.88
5' ss Seq
CAGGTCGTG
5' ss Score
-0.78
Exon sequences
Seq C1 exon
GTGCCTTCAAGAACCTAGTGGACATCAACTTTGTCTGTGCCATGGGCCCCCCGGGTGGAGGCAGGAACACCGTCACCCCGCGGCTGATGCGTCACTTCAACTACCTGTCTTTCGCTGAGATGGACGAGGTCAGCAAGAAACGCATCTTCTCCACCATCCTGGGCAACTGGTTGG
Seq A exon
CTCATGAATCTCTCTGAGCCTGTTTCTTCATCTGTACCTACCATTCCAG
Seq C2 exon
ATGGACTCCTTGGAGAAAAAAGCTACCGGGAGCGTGTGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114841_MULTIEX1-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.013 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127752=AAA_7=FE(20.4=100)
A:
PF127752=AAA_7=PD(2.0=66.7)
C2:
PF127752=AAA_7=FE(4.6=100)
Main Inclusion Isoform:
ENST00000420323fB2116
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGCTGATGCGTCACTTCAA
R:
CACACGCTCCCGGTAGCTTT
Band lengths:
132-181
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development